The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, New York, United States of America.
PLoS One. 2023 Mar 22;18(3):e0282216. doi: 10.1371/journal.pone.0282216. eCollection 2023.
The desire to have offspring of a specific sex has a long history but has been particularly present with the appearance of assisted reproduction. However, embryo selection raises ethical concerns. Thus, several techniques to select sex-specific spermatozoa have been proposed but carry limitations. There are many variations of each technique, and some are time consuming and costly. Concerns about effectiveness and safety have also rendered many of them unappealing. Therefore, we propose a novel sperm sex selection technique (SST) that appears to be consistently safe and effective. A single-center, non-randomized clinical trial was designed. We included 1,317 couples, who were assigned to one of two groups: ICSI/PGTA or ICSI/PGTA+GS. Ejaculates from male partners of couples in the ICSI/PGTA+GS group (n = 105) were processed using SST to enrich spermatozoa for their desired sex. Standard sperm processing was carried out for couples undergoing PGT-A solely for aneuploidy (n = 1,212), comprising the ICSI/PGTA control group. To validate the efficacy of our technique, we performed an analysis on spermatozoa pre- and post-selection, followed by an assessment of the proportion of the conceptuses' sex to confirm clinical reliability. We also followed up on ICSI clinical outcomes and child/newborn health to establish the safety of our method. Our main outcome measures included the proportion of spermatozoa and embryos enriched for female and male sex, as well as embryo euploidy rates and ICSI clinical outcomes. These outcomes were compared between the two groups. For the ICSI/PGTA group (n = 1,212) (maternal age, 37.0±4yrs; paternal age, 39.1±6yrs), with ejaculated spermatozoa processed in the standard fashion, 2,303 ICSI cycles (1.2±1) yielded an 81.0% (14,375/17,737) fertilization. PGT-A results indicated a euploidy rate of 73.1% (n = 3,718) for female and 72.4% (n = 3,054) for male embryos. These couples achieved a 76.4% (699/915) implantation and 65.2% (597/915) clinical pregnancy rate, with 551 deliveries (48.5% female, 51.5% male). All 105 men in the ICSI/PGTA+GS group had sperm specimens with an equal sex distribution at baseline. Of them, 59 (paternal age, 40.9±6yrs) who desired female offspring obtained an 81.6% enrichment after SST. They underwent 73 ICSI cycles with their partners (maternal age, 37.9±4yrs), achieving a 77.3% (583/754) fertilization. This resulted in 79.1% (231/292) female embryos that generated a 79.3% (23/29) implantation rate, with 16 singleton deliveries of the desired female sex without major or minor congenital malformations. Forty-six couples (maternal age, 37.3±4yrs; paternal age, 40.7±6yrs) desiring male offspring obtained an 80.8% sperm sex enrichment. They underwent 50 ICSI cycles, achieving a 75.4% (462/613) fertilization and equivalent proportion of male embryos (223/280, 79.6%). Their implantation was 90.5% (19/21), with 13 singleton deliveries of healthy male offspring. Furthermore, 78.8% (182/231) of female and 66.4% (148/223) of male embryos from the ICSI/PGTA+GS cohort were euploid. These euploid rates were comparable to those from the ICSI/PGTA group. In couples undergoing ICSI with PGT-A, SST consistently enriched spermatozoa, resulting in a higher proportion of embryos and thus offspring of the desired sex. Moreover, SST did not impair the fertilization or embryo developmental competence of spermatozoa, nor did it affect offspring health. Trial registration: Clinicaltrials.gov NCT05500573.
目的:探讨一种新型的精子性别选择技术(SST)在体外受精-单精子卵胞浆内注射(ICSI)-胚胎植入前遗传学检测(PGT-A)中的应用效果。
方法:采用前瞻性、非随机对照临床试验设计。纳入了 1317 对夫妇,按照 1:1 的比例随机分为 ICSI/PGTA 组和 ICSI/PGTA+SST 组。ICSI/PGTA+SST 组的 105 名男性患者的精子采用 SST 进行处理,以富集所需性别的精子;而 ICSI/PGTA 组则采用标准的精子处理方法。比较两组患者的精子和胚胎的性别比例、胚胎的整倍体率以及 ICSI 的临床结局。
结果:ICSI/PGTA 组(n=1212)的平均年龄为 37.0±4 岁,平均父亲年龄为 39.1±6 岁,经过标准的精子处理后,共进行了 2303 次 ICSI 周期,受精率为 81.0%(14375/17737)。PGT-A 结果显示,女性胚胎的整倍体率为 73.1%(n=3718),男性胚胎的整倍体率为 72.4%(n=3054)。这些夫妇的胚胎着床率为 76.4%(699/915),临床妊娠率为 65.2%(597/915),最终有 551 名婴儿出生,其中 48.5%为女性,51.5%为男性。ICSI/PGTA+SST 组的 105 名男性患者的精子在基线时具有相同的性别分布,其中 59 名(平均年龄为 40.9±6 岁)希望生育女性后代的患者在 SST 后获得了 81.6%的女性精子富集。他们与伴侣共进行了 73 次 ICSI 周期,受精率为 77.3%(583/754)。这些女性胚胎的整倍体率为 79.1%(231/292),胚胎着床率为 79.3%(23/29),最终有 16 名女性婴儿出生,无明显的先天性畸形。另外,46 对夫妇(平均年龄为 37.3±4 岁,平均父亲年龄为 40.7±6 岁)希望生育男性后代,在 SST 后获得了 80.8%的男性精子富集。他们共进行了 50 次 ICSI 周期,受精率为 75.4%(462/613),获得的男性胚胎比例为 79.6%(223/280)。这些夫妇的胚胎着床率为 90.5%(19/21),最终有 13 名健康的男性婴儿出生。此外,ICSI/PGTA+SST 组的女性胚胎(n=182)和男性胚胎(n=148)的整倍体率分别为 78.8%和 66.4%,与 ICSI/PGTA 组相似。
结论:在接受 ICSI 和 PGT-A 的患者中,SST 可以有效地富集所需性别的精子,从而提高胚胎和后代的性别比例。SST 不会影响精子的受精能力和胚胎发育能力,也不会对后代的健康产生不良影响。